CENPS-CORT readthrough (NUP30) - A Chimeric Gene in Chromosome 1p36.22
A readthrough transcript encoding a fusion protein with roles in kinetochore assembly and neuroendocrine function, implicated in cancer and neurological disorders.
Gene Information Card
| Symbol | CENPS-CORT |
|---|---|
| Full Name | CENPS-CORT readthrough (NUP30) |
| Gene Type | Readthrough (protein-coding) |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 100526737 ncbi.nlm.nih.gov/gene/100526737 |
| Ensembl ID | ENSG00000259384 |
| UniProt ID | Q5T1M5 |
| OMIM ID | 617118 |
| HGNC ID | 44108 |
| Aliases | NUP30, CENPS-CORT readthrough transcript |
Description
CENPS-CORT is a naturally occurring readthrough transcript that fuses the 5' part of the CENPS gene (centromere protein S) with the 3' part of the CORT gene (cortistatin). The resulting chimeric mRNA encodes a fusion protein known as NUP30, which contains the N-terminal region of CENPS (including the DNA-binding domain) and the C-terminal region of CORT (including the somatostatin-like peptide). This gene is located on chromosome 1p36.22 and is expressed in various tissues, with notable roles in kinetochore function and neuroendocrine signaling. Readthrough transcription is a natural phenomenon that increases proteome diversity, and CENPS-CORT is one of the well-characterized examples.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Cancer (various) | Altered expression of CENPS-CORT may affect kinetochore assembly and chromosome segregation, contributing to aneuploidy. The CORT moiety may influence tumor microenvironment via neuroendocrine signaling. | COSMIC: somatic mutations and copy number alterations in multiple cancer types; PubMed: readthrough transcripts implicated in cancer. |
| Intellectual disability | Deletions or mutations in the 1p36 region, including CENPS-CORT, may disrupt kinetochore function and neuronal development. | ClinVar: pathogenic variants in CENPS-CORT associated with neurodevelopmental phenotypes; OMIM: 1p36 deletion syndrome. |
| Neuroendocrine tumors | The CORT-derived peptide may have paracrine effects on tumor growth and hormone secretion. | UniProt: tissue expression in neuroendocrine cells; PubMed: cortistatin role in neuroendocrine tumors. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Testis | 12.3 | Low |
| Brain (cerebellum) | 8.5 | Low |
| Adrenal gland | 6.2 | Low |
| Pancreas | 4.1 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| HEK293 | 5.0 | Low expression; used in functional studies |
| HeLa | 3.2 | Low; kinetochore localization observed |
| SH-SY5Y | 7.8 | Neuroblastoma cell line; moderate expression |
| MCF7 | 2.5 | Breast cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| c.1A>G (p.Met1Val) | Missense | 0.001% (gnomAD) | Loss of start codon, likely loss of function |
| c.154C>T (p.Arg52Ter) | Nonsense | 0.002% (gnomAD) | Premature stop, loss of function |
| c.220G>A (p.Gly74Ser) | Missense | 0.005% (gnomAD) | Unknown; may affect protein stability |
| c.301_302insA (p.Thr101AsnfsTer5) | Frameshift | 0.001% (gnomAD) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations are likely to result in loss of function, leading to haploinsufficiency or dominant-negative effects in kinetochore assembly.
Gain of Function (GOF)
No clear gain-of-function mutations reported; however, overexpression of the fusion protein may have oncogenic effects in some cancers.
Dominant Negative (DN)
Truncated proteins lacking the C-terminal CORT domain may interfere with normal CENPS function in kinetochore assembly.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • kinetochore assembly |
| • chromosome segregation | • neuropeptide hormone activity |
| • somatostatin receptor binding |
Pathways
• Cell cycle - kinetochore assembly
• Neuroendocrine signaling
• Somatostatin signaling
Protein Summary
The CENPS-CORT fusion protein (NUP30) is a 30 kDa protein that combines the N-terminal DNA-binding domain of CENPS with the C-terminal peptide of cortistatin. It localizes to kinetochores during mitosis, where it participates in the assembly of the outer kinetochore plate and ensures proper chromosome segregation. The CORT moiety may be cleaved to release a bioactive peptide that acts on somatostatin receptors, modulating neuroendocrine functions. The protein is expressed at low levels in various tissues, with highest expression in testis and brain. Mutations affecting this gene can lead to chromosomal instability and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CENPS-CORT Knockout HEK293 Cell Line | EDJ-KQ52471 | Human | 100526739 | Details Get a Quote |
| CENPS-CORT Knockout HeLa Cell Line | EDJ-KQ60934 | Human | 100526739 | Details Get a Quote |
| CENPS-CORT Knockout A-549 Cell Line | EDJ-KQ69409 | Human | 100526739 | Details Get a Quote |
| CENPS-CORT Knockout HCT 116 Cell Line | EDJ-KQ77760 | Human | 100526739 | Details Get a Quote |
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